- Home
- Publications
- Publication Search
- Publication Details
Title
Lipids in the Physiopathology of Hereditary Spastic Paraplegias
Authors
Keywords
-
Journal
Frontiers in Neuroscience
Volume 14, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2020-02-28
DOI
10.3389/fnins.2020.00074
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Species-specific differences in non-lysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations
- (2019) Marina A. Woeste et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five
- (2019) Mukhran Khundadze et al. NEUROBIOLOGY OF DISEASE
- Allogeneic hematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophy
- (2019) Nils Waldhüter et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Mitochondria Bound to Lipid Droplets: Where Mitochondrial Dynamics Regulate Lipid Storage and Utilization
- (2019) Ilan Y. Benador et al. Cell Metabolism
- FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
- (2019) Tim W Rattay et al. BRAIN
- Spastin tethers lipid droplets to peroxisomes and directs fatty acid trafficking through ESCRT-III
- (2019) Chi-Lun Chang et al. JOURNAL OF CELL BIOLOGY
- Phosphoinositide switches in endocytosis and in the endolysosomal system
- (2019) Haibin Wang et al. CURRENT OPINION IN CELL BIOLOGY
- Emerging Links between Lipid Droplets and Motor Neuron Diseases
- (2018) Giuseppa Pennetta et al. DEVELOPMENTAL CELL
- A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
- (2018) S. L. Rydning et al. EUROPEAN JOURNAL OF NEUROLOGY
- Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis
- (2018) P. Barton Duell et al. Journal of Clinical Lipidology
- EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans
- (2018) Yasuhiro Horibata et al. JOURNAL OF LIPID RESEARCH
- DominantELOVL1mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features
- (2018) Anna Kutkowska-Kaźmierczak et al. JOURNAL OF MEDICAL GENETICS
- Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft
- (2018) Cornelia Laule et al. JOURNAL OF NEUROIMAGING
- Profiling and Imaging of Phospholipids in Brains of Abcd1 -Deficient Mice
- (2018) Kotaro Hama et al. LIPIDS
- Novel SERAC1 mutations in a Chinese patient presenting with parkinsonism and dystonia
- (2018) Jun Ma et al. NEUROLOGICAL SCIENCES
- Phosphatidic Acid and Cardiolipin Coordinate Mitochondrial Dynamics
- (2018) Shoichiro Kameoka et al. TRENDS IN CELL BIOLOGY
- Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration
- (2018) Maxime Boutry et al. Cell Reports
- ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis
- (2018) Chiara Vantaggiato et al. Autophagy
- The Spastic Paraplegia-Associated Phospholipase DDHD1 Is a Primary Brain Phosphatidylinositol Lipase
- (2018) Jordon M. Inloes et al. BIOCHEMISTRY
- Neural symptoms in a gene knockout mouse model of Sjögren-Larsson syndrome are associated with a decrease in 2-hydroxygalactosylceramide
- (2018) Tsukasa Kanetake et al. FASEB JOURNAL
- Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease
- (2018) Naoko Inamura et al. NEUROBIOLOGY OF DISEASE
- Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis
- (2018) Tomohiro Maruyama et al. Cell Death & Disease
- Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation
- (2018) Gerald V. Raymond et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- Human SPG11 cerebral organoids reveal cortical neurogenesis impairment
- (2018) Francesc Pérez-Brangulí et al. HUMAN MOLECULAR GENETICS
- De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
- (2018) Noomi Mueller et al. JOURNAL OF MEDICAL GENETICS
- Dynamics and functions of lipid droplets
- (2018) James A. Olzmann et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
- (2018) Bianca M.L. Stelten et al. NEUROLOGY
- Mutations in DDHD1 , encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation
- (2017) Rodolphe Dard et al. European Journal of Medical Genetics
- Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2
- (2017) Katja A. Lüders et al. GLIA
- Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia
- (2017) Rachel Allison et al. JOURNAL OF CELL BIOLOGY
- DrosophilaAtlastin in motor neurons is required for locomotion and presynaptic function
- (2017) Cristian De Gregorio et al. JOURNAL OF CELL SCIENCE
- SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
- (2017) Benjamin Roeben et al. JOURNAL OF MEDICAL GENETICS
- Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration
- (2017) Julien Branchu et al. NEUROBIOLOGY OF DISEASE
- Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy
- (2017) Florian Eichler et al. NEW ENGLAND JOURNAL OF MEDICINE
- GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model
- (2016) Himanshu K. Mishra et al. ANNALS OF NEUROLOGY
- Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience
- (2016) D. F. van Rappard et al. BLOOD
- S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model
- (2016) Pingting Liu et al. Disease Models & Mechanisms
- Seipin regulates ER–lipid droplet contacts and cargo delivery
- (2016) Veijo T Salo et al. EMBO JOURNAL
- Reep1null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation
- (2016) Benoît Renvoisé et al. HUMAN MOLECULAR GENETICS
- Carnitine palmitoyltransferase 1C: From cognition to cancer
- (2016) Núria Casals et al. PROGRESS IN LIPID RESEARCH
- Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)
- (2015) Saki Sultana et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Astrocytes and mitochondria from adrenoleukodystrophy protein (ABCD1)-deficient mice reveal that the adrenoleukodystrophy-associated very long-chain fatty acids target several cellular energy-dependent functions
- (2015) Nicol Kruska et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder
- (2015) Alexander Lossos et al. BRAIN
- ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease
- (2015) Celeste Montecchiani et al. BRAIN
- Acetate/acetyl-CoA metabolism associated with cancer fatty acid synthesis: Overview and application
- (2015) Yukie Yoshii et al. CANCER LETTERS
- Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease
- (2015) Jennifer Hirst et al. HUMAN MOLECULAR GENETICS
- Membrane lipids regulate ganglioside GM2 catabolism and GM2 activator protein activity
- (2015) Susi Anheuser et al. JOURNAL OF LIPID RESEARCH
- Lysophosphatidic Acid Signaling in the Nervous System
- (2015) Yun C. Yung et al. NEURON
- Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis
- (2015) James C. Dodge et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Spastin Binds to Lipid Droplets and Affects Lipid Metabolism
- (2015) Chrisovalantis Papadopoulos et al. PLoS Genetics
- Accumulation of Glucosylceramide in the Absence of the Beta-Glucosidase GBA2 Alters Cytoskeletal Dynamics
- (2015) Diana Raju et al. PLoS Genetics
- In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11
- (2015) Rita-Eva Varga et al. PLoS Genetics
- A Novel Mutation inELOVL4Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia
- (2015) Kokoro Ozaki et al. JAMA Neurology
- Mutation inCPT1CAssociated With Pure Autosomal Dominant Spastic Paraplegia
- (2015) Carlo Rinaldi et al. JAMA Neurology
- X-linked adrenoleukodystrophy in women: a cross-sectional cohort study
- (2014) Marc Engelen et al. BRAIN
- Oxidation of EndogenousN-Arachidonoylserotonin by Human Cytochrome P450 2U1
- (2014) Michal Siller et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Phosphatidic Acid (PA)-preferring Phospholipase A1Regulates Mitochondrial Dynamics
- (2014) Takashi Baba et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation
- (2014) Jaerak Chang et al. JOURNAL OF CLINICAL INVESTIGATION
- Cholestenoic acids regulate motor neuron survival via liver X receptors
- (2014) Spyridon Theofilopoulos et al. JOURNAL OF CLINICAL INVESTIGATION
- Neuronal Expression of GalNAc Transferase Is Sufficient to Prevent the Age-Related Neurodegenerative Phenotype of Complex Ganglioside-Deficient Mice
- (2014) Denggao Yao et al. JOURNAL OF NEUROSCIENCE
- The hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipase
- (2014) J. M. Inloes et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
- (2014) G. Novarino et al. SCIENCE
- Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation
- (2014) Hiroshi Doi et al. Scientific Reports
- Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy
- (2014) Yoshiko Murakami et al. PLoS Genetics
- Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
- (2014) Benoît Renvoisé et al. Annals of Clinical and Translational Neurology
- Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
- (2013) Elodie Martin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
- (2013) Monia B. Hammer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
- (2013) Amir Boukhris et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis
- (2013) Gaurav V. Harlalka et al. BRAIN
- Cardiolipin-dependent formation of mitochondrial respiratory supercomplexes
- (2013) Eugenia Mileykovskaya et al. CHEMISTRY AND PHYSICS OF LIPIDS
- Neurological Outcome in Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid
- (2013) Gilad Yahalom et al. CLINICAL NEUROPHARMACOLOGY
- Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis
- (2013) Michael D. Huber et al. JOURNAL OF CELL BIOLOGY
- Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission
- (2013) Shunhui Wei et al. JOURNAL OF NEUROCHEMISTRY
- Impaired Epidermal Permeability Barrier in Mice Lacking Elovl1, the Gene Responsible for Very-Long-Chain Fatty Acid Production
- (2013) T. Sassa et al. MOLECULAR AND CELLULAR BIOLOGY
- A Conserved Role for Atlastin GTPases in Regulating Lipid Droplet Size
- (2013) Robin W. Klemm et al. Cell Reports
- A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System
- (2013) Mukhran Khundadze et al. PLoS Genetics
- Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
- (2012) Janneke H.M. Schuurs-Hoeijmakers et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
- (2012) Christelle Tesson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Functions of plasmalogen lipids in health and disease
- (2012) Nancy E. Braverman et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
- (2012) Stephan Kemp et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p
- (2012) Hiroki Inoue et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
- (2012) Jose Bras et al. HUMAN MOLECULAR GENETICS
- Ceramide Levels Regulated by Carnitine Palmitoyltransferase 1C Control Dendritic Spine Maturation and Cognition
- (2012) Patricia Carrasco et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
- (2012) Saskia B Wortmann et al. NATURE GENETICS
- Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration
- (2012) B. Dehay et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene
- (2011) Satoshi O. Suzuki et al. ACTA NEUROPATHOLOGICA
- Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
- (2011) Mohammed A. Aldahmesh et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Central nervous system dysfunction in a mouse model of Fa2h deficiency
- (2011) Kathleen A. Potter et al. GLIA
- Sorting of GPI-anchored proteins into ER exit sites by p24 proteins is dependent on remodeled GPI
- (2011) Morihisa Fujita et al. JOURNAL OF CELL BIOLOGY
- Neuroaxonal Dystrophy in Calcium-Independent Phospholipase A2 Deficiency Results from Insufficient Remodeling and Degeneration of Mitochondrial and Presynaptic Membranes
- (2011) G. Beck et al. JOURNAL OF NEUROSCIENCE
- Atypical juvenile parkinsonism in a consanguineous SPG15 family
- (2011) Julia Schicks et al. MOVEMENT DISORDERS
- Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease
- (2011) Karen M. Ashe et al. PLoS One
- SPG20 Protein Spartin Associates with Cardiolipin via Its Plant-Related Senescence Domain and Regulates Mitochondrial Ca2+ Homeostasis
- (2011) Dinesh C. Joshi et al. PLoS One
- Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
- (2010) Michael C. Kruer et al. ANNALS OF NEUROLOGY
- SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
- (2010) A. Orlacchio et al. BRAIN
- The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy
- (2010) Rob Ofman et al. EMBO Molecular Medicine
- Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
- (2010) Seong H. Park et al. JOURNAL OF CLINICAL INVESTIGATION
- Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology
- (2010) Emma J. Parkinson-Lawrence et al. PHYSIOLOGY
- Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5
- (2009) Thomas L. Edwards et al. BIOCHEMICAL JOURNAL
- CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5
- (2009) C. Goizet et al. BRAIN
- An Endoplasmic Reticulum (ER) Membrane Complex Composed of SPFH1 and SPFH2 Mediates the ER-associated Degradation of Inositol 1,4,5-Trisphosphate Receptors
- (2009) Margaret M. P. Pearce et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover
- (2009) Scott W. Eastman et al. JOURNAL OF CELL BIOLOGY
- Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis
- (2009) Rebecca Schüle et al. JOURNAL OF LIPID RESEARCH
- SPG11 spastic paraplegia
- (2009) Mathieu Anheim et al. JOURNAL OF NEUROLOGY
- Neuropathy Target Esterase Is Required for Adult Vertebrate Axon Maintenance
- (2009) D. J. Read et al. JOURNAL OF NEUROSCIENCE
- Myelin-associated glycoprotein and its axonal receptors
- (2009) Ronald L. Schnaar et al. JOURNAL OF NEUROSCIENCE RESEARCH
- Oxysterol-Induced Rearrangement of the Liquid-Ordered Phase: A Possible Link to Alzheimer’s Disease?
- (2009) Hideyuki Mitomo et al. JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
- Loss of phosphatidylinositol 4-kinase 2α activity causes late onset degeneration of spinal cord axons
- (2009) J. Paul Simons et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
- (2008) Simon Edvardson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration
- (2008) Maria K. Tsaousidou et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42)
- (2008) Pengfei Lin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome
- (2008) Sylvain Hanein et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease
- (2008) Shirley Rainier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Randomized, controlled trial of miglustat in Gaucher's disease type 3
- (2008) Raphael Schiffmann et al. ANNALS OF NEUROLOGY
- Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
- (2008) Florian S. Eichler et al. ANNALS OF NEUROLOGY
- Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations
- (2008) Jennifer L. Orthmann-Murphy et al. BRAIN
- Fission and selective fusion govern mitochondrial segregation and elimination by autophagy
- (2008) Gilad Twig et al. EMBO JOURNAL
- The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters
- (2008) Carlo W. T. van Roermund et al. FASEB JOURNAL
- Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture
- (2008) S. Hein et al. HUMAN MOLECULAR GENETICS
- The emerging role of group VI calcium-independent phospholipase A2in releasing docosahexaenoic acid from brain phospholipids: Fig. 1.
- (2008) Joshua T. Green et al. JOURNAL OF LIPID RESEARCH
- Absence of 2-Hydroxylated Sphingolipids Is Compatible with Normal Neural Development But Causes Late-Onset Axon and Myelin Sheath Degeneration
- (2008) I. Zoller et al. JOURNAL OF NEUROSCIENCE
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now